Fujii, 1994: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
21
Yes
Gait ataxia
Cognitive impairment (interictal)
Ataxia
Dysarthria
Ataxia (interictal)
Cognitive impairment
-Gait ataxia (interictal)
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n.a.